DNAJC21 (DnaJ heat shock protein family (Hsp40) member C21)

2017-08-01  

Identity

HGNC
LOCATION
5p13.2
LOCUSID
ALIAS
BMFS3,DNAJA5,GS3,JJJ1
FUSION GENES

Other Information

Locus ID:

NCBI: 134218
MIM: 617048
HGNC: 27030
Ensembl: ENSG00000168724

Variants:

dbSNP: 134218
ClinVar: 134218
TCGA: ENSG00000168724
COSMIC: DNAJC21

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168724ENST00000382021Q5F1R6
ENSG00000168724ENST00000642285A0A2R8Y4Q0
ENSG00000168724ENST00000642675A0A2R8Y534
ENSG00000168724ENST00000642851Q5F1R6
ENSG00000168724ENST00000644357A0A2R8Y4N5
ENSG00000168724ENST00000646714A0A2R8YET8
ENSG00000168724ENST00000648817Q5F1R6

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
301985702019Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.9
301985702019Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations.9
297008102018Refining the phenotype associated with biallelic DNAJC21 mutations.16
297008102018Refining the phenotype associated with biallelic DNAJC21 mutations.16
280623952017Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.51
280623952017Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.51
273466872016DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.46
273466872016DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.46
150673792004Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.1
150673792004Cloning and characterization of a novel human cDNA encoding a J-domain protein (DNAJA5) from the fetal brain.1

Citation

Dessen P

DNAJC21 (DnaJ heat shock protein family (Hsp40) member C21)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/57023/deep-insight-explorer/gene-fusions-explorer/haematological-explorer/